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Volume 5, Issue 7, Pages (July 2019)

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1 Volume 5, Issue 7, Pages 576-579 (July 2019)
A homozygous frameshift variant in the KRT5 gene is compatible with life and results in severe recessive epidermolysis bullosa simplex  Rebecca K. Tryon, MS, MA, Jakub Tolar, MD, PhD, Sarah M. Preusser, MS, Megan J. Riddle, BA, Douglas R. Keene, PhD, Matthew Bower, MS, Bharat Thyagarajan, MD, PhD, MPH, Christen L. Ebens, MD, MPH  JAAD Case Reports  Volume 5, Issue 7, Pages (July 2019) DOI: /j.jdcr Copyright © 2019 American Academy of Dermatology, Inc. Terms and Conditions

2 Fig 1 Immunofluorescence reveals thin epidermis with abnormal keratin 5 and 14 staining comparing the proband with normal control skin. JAAD Case Reports 2019 5, DOI: ( /j.jdcr ) Copyright © 2019 American Academy of Dermatology, Inc. Terms and Conditions

3 Fig 2 Immunoelectron microscopy of full-thickness proband skin biopsy sample reveals (A) disorganized cytoplasmic contents of basal keratinocytes, (B) free-floating anchoring fibrils, (C, D) abnormal tonofilaments, and (E, F) undulating lamina densa. Black bar = 2 μm. JAAD Case Reports 2019 5, DOI: ( /j.jdcr ) Copyright © 2019 American Academy of Dermatology, Inc. Terms and Conditions


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